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Biomedical subjects

M Cummins

Publications and source records attributed to M Cummins.

At least 19 recordsLinked to original sources

Isochromosome of a deleted 20q: a rare but recurrent chromosome abnormality in myelodysplastic syndromes.

Interstitial deletion of the long arm of chromosome 20, as the sole abnormality, is commonly observed in myeloid malignancies, including myeloproliferative disorder, myelodysplastic syndrome, and acute myeloid leukemia. The breakpoints of the deletion are typically located in the region 20q11.2 approximately q13.3, although smaller deletions within this region have also been reported. We present here 4 patients with myelodysplastic syndrome with an isochromosome of the deleted long arm of chromosome 20: ider(20)(q10)del(20)(q11q13). Fluorescence in situ hybridization studies were performed on the bone marrow samples from these patients to prove the identity of this unusual chromosome abnormality.

Adult↗

Management of chronic myeloid leukaemia in relapse following donor lymphocyte infusion induced remission: a retrospective study of the Clinical Trials Committee of the British Society of Blood & Marrow Transplantation (BSBMT).

Donor lymphocyte infusion (DLI) can restore remission in a high percentage of patients with chronic myeloid leukaemia (CML) who relapse after allogeneic stem cell transplant (SCT). Subsequent relapses after a DLI-induced remission do occur and the optimal management of these patients is not defined. A retrospective study of the practice of UK transplant centres was conducted. In all, 13 patients from seven centres were identified: all were treated for relapse post allogeneic SCT with DLI and achieved either a complete cytogenetic (n=5) or molecular (n=8) remission. All patients subsequently had a second relapse, at molecular (n=7), cytogenetic (n=4) and haematological (n=2) levels. Further DLI was used in the treatment of 11 patients, imatinib mesylate in three and chemotherapy in two. The two patients with haematological relapse died of blastic disease. The remaining 11 patients achieved either a complete cytogenetic (n=2) or molecular (n=9) remission. Nine patients remain in molecular remission at a median follow-up of 29 months, seven of whom had received DLI alone as treatment for second relapse, one DLI plus imatinib and one imatinib alone. Toxicity following DLI for second relapse was low. Longer follow-up will be required to see if these second DLI-induced remissions will be durable.

Adult↗

Building a case for understanding the lived experiences of males who attempt suicide in Alberta, Canada.

Suicide is a serious public health concern in Alberta, with, on average, over 400 Albertans taking their own lives annually. The case for concern is even more pronounced when one considers that for younger Albertans (those aged less than 45 years), suicide is the second leading cause of death. While trends in rates of suicide fluctuate over time, it is important to note that suicide rates for males have been at least three times higher than the corresponding rates for females since the 1950s. Furthermore, these differences have increased so that, by the 1990s the rate for male suicide was four times higher than that of females. In addition, rates are increasing at a faster pace in younger cohorts. Despite the existence of numerous positivistically orientated studies, and the introduction of a range of strategies to help prevent suicide, significant reductions in suicide rates have not been achieved. Similarly, while there is a substantial literature on the issue of suicide in Canada, there remain many gaps in our knowledge. Our understanding of the experiences and the meanings attributed to these experiences that motivate contemporary Albertan males to attempt suicide is far from complete. In order to design interventions to help reduce the suicide rate, whether these are interventions at the preprimary, primary or secondary level of care, it is necessary to gain a more detailed and comprehensive understanding of this highly complex behaviour. Consequently, there is an urgent need to better understand the particular life experiences and the meanings that individuals attach to these experiences. Accordingly, this paper makes the case for the use of hermeneutic, phenomenological investigations, as a means to further elucidate the lived experiences of suicidal Alberta males.

Adult↗

Hospital hairdresser as a potential source of cross-infection with MRSA.

Following medical staff concerns about patients screening positive for methicillin-resistant Staphylococcus aureus (MRSA) from the hairline site only, it was suggested that the hospital hairdresser could be a possible source for cross-contamination. Analysis of her procedures and decontamination practices confirmed her to be a potential source. Swabbing of her equipment after a day's session with her normal cleansing practice revealed the presence of MRSA, confirmed by phage typing as an epidemic strain within the hospital. This provided putative evidence for a vehicle of transmission. A review of advice for hairdressers in hospitals was obtained from the literature and via a telephone survey of infection control nurses in London. A composite policy was produced for hairdressers attending MRSA-positive patients in hospital to minimize this potential risk.

Barbering↗

A tropomyosin-2 mutation suppresses a troponin I myopathy in Drosophila.

A suppressor mutation, D53, of the held-up(2) allele of the Drosophila melanogaster Troponin I (wupA) gene is described. D53, a missense mutation, S185F, of the tropomyosin-2, Tm2, gene fully suppresses all the phenotypic effects of held-up(2), including the destructive hypercontraction of the indirect flight muscles (IFMs), a lack of jumping, the progressive myopathy of the walking muscles, and reductions in larval crawling and feeding behavior. The suppressor restores normal function of the IFMs, but flight ability decreases with age and correlates with an unusual, progressive structural collapse of the myofibrillar lattice starting at the center. The S185F substitution in Tm2 is close to a troponin T binding site on tropomyosin. Models to explain suppression by D53, derived from current knowledge of the vertebrate troponin-tropomyosin complex structure and functions, are discussed. The effects of S185F are compared with those of two mutations in residues 175 and 180 of human alpha-tropomyosin 1 which cause familial hypertrophic cardiomyopathy (HCM).

Amino Acid Sequence↗

Randomized trial of supervised injectable versus oral methadone maintenance: report of feasibility and 6-month outcome.

AIM: To assess the feasibility of a randomized clinical trial of supervised injectable versus oral methadone maintenance and to assess medium-term treatment outcomes. DESIGN: Randomized clinical trial of supervised injectable versus supervised oral methadone maintenance treatment (MMT). Trial participants were dependent illicit opiate injectors allocated at intake to supervised injectable or oral methadone maintenance treatment. SETTING: Specialist addictions treatment centre in South London. SUBJECTS: Forty dependent illicit opiate injectors seeking methadone maintenance treatment. INTERVENTIONS: Daily supervised injectable and oral methadone maintenance, delivered at the treatment centre. MAIN OUTCOME MEASURES: Frequency of illicit heroin use and frequency of illicit drug injecting during 30 days before intake to treatment and prior to 6-month follow-up. SECONDARY OUTCOME MEASURES: frequency of use of illicit methadone, crack cocaine, benzodiazepines and alcohol, physical and psychological health symptoms and acquisitive crime. RESULTS: Injectable and oral MMT were both generally acceptable to the study participants: there was a high level of agreement to enter the randomized trial, and subsequent retention in treatment was good. The average number of days of illicit heroin use reduced from 22.2 to 7.6 for the injectable MMT group and from 22.4 to 8.7 for the oral MMT group. The average number of days of illicit injecting reduced from 25.7 to 10.8 days for the injectable group and from 20.1 to 11.9 days for the oral group. Patients' physical and psychological health symptoms and involvement in acquisitive crime also reduced in both groups. Treatment satisfaction ratings at follow-up were higher among patients in the injectable MMT group. The ratio for the actual medication costs between injectable and oral MMT was 6.8:1, and for the direct operational costs was 4.7:1. There was some evidence of a differential patient response with greater reductions in heroin use occurring among patients who were daily illicit injectors and had poorer psychological and physical health (at entry) who were allocated to injectable MMT. CONCLUSIONS: Conduct of the trial has demonstrated that it is feasible to implement supervised injectable methadone maintenance treatment in the context of (although separate from) a specialist oral methadone maintenance service. Patients assigned to receive either supervised injectable or oral MMT had broadly equivalent, positive during-treatment outcomes at 6-month follow-up. Future studies should seek to identify patient characteristics which are linked to good outcome in injectable MMT. Practical evidence-based guidance to physicians about determining which patients are more suitable for injectable MMT is urgently needed.

Administration, Oral↗

Pressure ulcer prevention and care: a survey of current practice.

The incidence and management of pressure ulcers in hospitalised patients is an ongoing concern for nurses. Efforts to prevent pressure ulcer development are plagued with inconsistencies and a general lack of best practice guidelines. Establishing current practice approaches to the assessment, prevention and management of pressure ulcers is a necessary first step in the implementation of evidence-based/best practice guidelines. Anecdotal evidence suggested a range of different approaches were being used in a Sydney metropolitan area health service (AHS) to assess patients to identify those at risk, to prevent pressure ulcers and to treat existing ulcers. A collaborative research project was undertaken to examine current practice and to explore the apparent clinical variance. It involved the distribution of a questionnaire to registered nurses working within the AHS (n = 2113) and a review of nursing policy documents in the various hospitals in the health service area. While the overall response rate was satisfactory (40%) many of the returned questionnaires were incomplete. Only 21% (n = 444) of the questionnaires were deemed suitable for analysis. The findings highlight a range of inconsistencies within and across nursing practice domains. Nurses generally do not use a tool to assess pressure ulcer risk potential, but rely on a range of practice procedures and risk indicators to determine risk potential of developing pressure ulcers. Repositioning patients is the most common approach used in an attempt to prevent the development of pressure ulcers, but additional measures are diverse. Most nurses seem to be familiar with modern wound dressings such as hydrocolloids, foams and alginates in the treatment of second and third stage ulceration. However, the care provided by some nurses reflects an adherence to outdated practices, including the use of water filled gloves, povidone iodine and gauze packing.

Alginates↗

Ecthyma gangrenosum as a very early herald of acute lymphoblastic leukaemia.

Ecthyma gangrenosum is a manifestation of cutaneous infection by Pseudomonas aeruginosa. The lesion may be associated with immunocompromise, in particular neutropenia. We present a case of ecthyma gangrenosum in a previously healthy child who 3 months later developed acute lymphoblastic leukaemia; we use this to illustrate the lack of information on the growth rate of malignant and premalignant leukaemic cells in children.

Antibodies, Neoplasm↗

Quantification of CMV viraemia in a case of transfusion-related graft-versus-host disease associated with purine analogue treatment.

We report a patient who developed transfusion-associated graft-versus-host-disease (GvHD) and concurrent cytomegalovirus (CMV) infection, both complications thought to be related to severe T lymphocyte depletion induced by treatment with a purine analogue drug, fludarabine. CMV viraemia was detected by qualitative PCR and the viral load in positive samples was measured using a fully quantitative PCR assay. This quantitative assay enabled the evaluation of the efficacy of antiviral interventions based on the qualitative PCR result. The case illustrates the risks associated with the use of purine analogue drugs, as well as the value of quantitative CMV PCR assays for monitoring CMV infection in immunocompromised patients.

Acute Disease↗

Detection of proliferating cell nuclear antigen in paraffin-embedded specimens is dependent on preembedding tissue handling and fixation.

Immunohistochemical detection of proliferating cell nuclear antigen (PCNA), a cell cycle-related protein used to estimate tumor growth fraction, is variable in formalin-fixed compared with methanol-fixed tissue specimens. This is assumed to result from conformational changes in the antigenic epitope induced by formaldehyde; therefore, to be susceptible to retrieval in archival specimens. In this study, formalin fixation reduced the intensity of staining and the number of positive cells to approximately 25% of those in methanol-fixed material. The washing of tissue specimens prior to methacarn fixation also reduced PCNA staining. Loss of staining was not restored after use of a commercial retrieval kit recommended for PCNA immunohistochemistry. Immunoblotting of formalin fixatives and saline washings after removal of tissue specimens consistently demonstrated the presence of PCNA-like activity in solution. We conclude that the exceptional solubility of PCNA is responsible for reduced immunostaining in formalin-fixed material, that the loss is irreversible, and that methanol or methacarn is the fixative of choice for PCNA immunohistochemistry.

Animals↗

Obstructive sialadenitis: a rat model.

Obstructive adenitis of major salivary glands is a common entity. Although the pathologic features are well recognized, the various cell types involved in the atrophy and subsequent regeneration of the obstructed salivary gland have been controversial. For this reason, an animal model of obstructive sialadenitis that induced atrophy in the rat parotid gland was developed. A clamp was devised that would occlude the main excretory duct of the gland inducing atrophy, but that, following removal, left the duct patent and allowed regeneration to occur. Both atrophy and regeneration were studied, and the results presented. The number and location of cycling acinar, intercalated, striated, and excretory duct cells were identified, using an antibody to proliferating cell nuclear antigen (PCNA). All cell types were induced to cycle during both the atrophy and regeneration phase, but the degree of cycling was more pronounced during regeneration. Three days after release of the duct obstruction, cycling acinar cells had increased 40-fold, while striated and intercalated ducts increased 6.5- and 5.0-fold, respectively. More importantly, peak cycling of acinar cells preceded, but paralleled, the increase in acinar cell composition of the gland. This model of obstructive sialadenitis indicates that all cell types are responsible for regeneration in the obstructed rat parotid gland.

Animals↗

Alternate, adjacent 2 and 3:1 meiotic segregation products from a balanced t(13;18) (q12;q11) carrier.

We present a case in which alternate, adjacent 2 and 3:1 meiotic segregations have occurred in the pregnancies of a female carrier of a balanced reciprocal translocation -46,XX,t(13;18) (q12;q11). Products of five conceptions effectively showed trisomy 18q, trisomy 18p or monosomy 18p. This is one of the rare rearrangements which can give rise to a variety of segregation modes including adjacent 2.

Chromosomes, Human, Pair 13↗

A small one-band paracentric inversion inv (4) (p15.3p16.3).

A neonate with aniridia was found to have a one band paracentric inversion of the short arm of chromosome 4. This was initially difficult to interpret on high resolution banding. The inversion was present in three generations of the family.

Aniridia↗

Job sharing.

Explore the source record for details and available documents.

Female↗

The causes of low oestrogen excretion in pregnancy: the development of diagnostic methods for the antenatal detection of familial congenital adrenocortical hypoplasia.

A pregnancy producing a boy with congeital adrenocortical hypoplasia is described. Consistently low oestrogen excretion, less than 10 umol/24 h, was not associated with any anatomical abnormality or diminished growth of the fetus as judged by ultrasound examination. Fetoplacental steroid sulphatase definciency was excluded by finding normal maternal excretion of oestrogen precursors, the 3Beta-hydroxy-5-ene steroid sulphates. Generalized adrenocortical hypoplasia was proven in the baby boy by analysis of steroid netabolites excreted in his urine. He suffered from salt loss and progressive jaundice. Both were responsive to gluco- and mineralo-corticoid replacement therapy. It is suggested that amniocentesis may be required for the antenatal diagnosis of congenital adrenocortical hypoplasia.

Adrenal Cortex Hormones↗

Follow-up of children of diabetic mothers.

The results of a follow-up study of infants of diabetic mothers are presented. The antenatal care of all such mothers was supervised in a combined clinic by obstetricians and physicians, and good diabetic control was achieved in most of them. 51 mothers delivered 73 infants, all liveborn, between the years 1964 and 1972 inclusive at Hammersmith Hospital. There were no fetal deaths. 66 infants survived the neonatal period, and 63 the first 2 years of life. 51 children, including all those seriously ill in the neonatal period, could be traced. Detailed neurological and general examinations including skinfold measurements were made, and the IQ measured. Four children were found to have major handicaps. These were severe deafness, epilepsy, low IQ, and myopia. No other neurological abnormalities were detected, and the distribution of full-scale IQs was normal. The distribution of height and head circumference centiles was near normal, but an increased number of children had weights above the 90th centile. No significant congenital malformations were found in these 51 survivors, and none has so far developed diabetes.

Adolescent↗